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NM_001298.3:c.2050G>A
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NM_001298.3:c.2050G>A
HGVS Expressions
NG_009097.1:g.56066G>A
NM_001298.3:c.2050G>A
NP_001289.1:p.Gly684Arg
NC_000002.12:g.98397220G>A
Associated Genes
Cyclic Nucleotide-Gated Channel, Alpha-3
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Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
754086920
Clinvar
337670
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
268000.12
Saudi Arabia
2
Likely Pathogenic
Retinitis Pigmentosa
Patel et al. 2016
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Contributors
Sayeeda Hana: 21.08.2024
Edit History
Sayeeda Hana: 21.08.2024
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